Immunodeficiency 47

Definition

Any primary immunodeficiency disease in which the cause of the disease is a mutation in the ATP6AP1 gene.

Also known as ATP6AP1 primary immunodeficiency disease, IMD47, immunodeficiency 47, immunodeficiency 47, X-linked recessive, immunodeficiency 47; IMD47, immunodeficiency type 47, primary immunodeficiency disease caused by mutation in ATP6AP1 — per MONDO

Also identified as

• DOID 0112002 per MONDO
• OMIM 300972 per MONDO
• Orphanet 692790 per MONDO
• UMLS C4310819 per MONDO